Article
Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2019
Ye Ziqing, Huang Ying, Zheng Cuifang, Wang Yuhuan, Lu Junping, Wang Huijun, Wu Bingbing, Wang Xiaochuan, Zhang Rong, Wang Jin
Abstract excerpt
PURPOSE: Genetic sequencing for children with congenital diarrhea and enteropathy (CODE) has important implications for the diagnosis, prognosis, and implementation of precision medicine. METHODS: We performed exome sequencing or targeted panel sequencing on 137 children with CODE. Endoscopic, imaging, histological, and immunological assessments were also applied. Patients were divided into three subgroups:...
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